A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15052697



Internal ID409612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70655178..70657865hg38UCSC Ensembl
Innerchr14:70655178..70657865hg38UCSC Ensembl
Outerchr14:70655106..70658076hg38UCSC Ensembl
chr14:71121895..71124582hg19UCSC Ensembl
Innerchr14:71121895..71124582hg19UCSC Ensembl
Outerchr14:71121823..71124793hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg382688
hg192688
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634866
Supporting Variants
SamplesHG00122
Known GenesTTC9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15052697
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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